Canonical Allele Identifier: CA066880
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs552692138
ExAC: 2:21229901 A / T
gnomAD v2: 2-21229901-A-T
gnomAD v3: 2-21007029-A-T
gnomAD v4: 2-21007029-A-T
MyVariant Identifiers: chr2:g.21229901A>T (hg19) chr2:g.21007029A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007029A>T , CM000664.2:g.21007029A>T GRCh38
NC_000002.11:g.21229901A>T , CM000664.1:g.21229901A>T GRCh37
NC_000002.10:g.21083406A>T NCBI36
NG_011793.1:g.42045T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9839T>A MANE Select ENSP00000233242.1:p.Met3280Lys
ENST00000616098.4:c.9839T>A ENSP00000477990.1:p.Met3280Lys
NM_000384.2:c.9839T>A NP_000375.2:p.Met3280Lys
XM_011532809.1:c.5869+3704T>A XP_011531111.1:n.5869+3704T>A
NM_000384.3:c.9839T>A MANE Select NP_000375.3:p.Met3280Lys
Search 100 bp 5'
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